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Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.
PTCH2 isoforms have distinct roles in Hedgehog (zeige SHH Proteine) signalling.
PTCH2 (2157G-->A), a novel missense mutation, underlies NBCCS (zeige PTCH1 Proteine), resulting in the loss of PTCH2 inhibitory function in the Shh (zeige SHH Proteine) signalling pathway.
A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation are reported.
These findings support a model in which Ptch1/2 mediate secretion of a Smo-inhibitory cholesterol precursor.
Ptch2(-/-) niche cells show hyperactive noncanonical HH signaling, resulting in reduced production of essential HSC (zeige FUT1 Proteine) regulators (Scf (zeige KITLG Proteine), Cxcl12 (zeige CXCL12 Proteine), and Jag1 (zeige JAG1 Proteine)) and depletion of osteoblasts.
Ptch2 is a functional Shh receptor that shares overlapping functions with Ptch1 in Smo regulation and limb development.
Ptch1 (zeige PTCH1 Proteine)(-/-);Ptch2(-/-) cells cannot further activate the Shh (zeige SHH Proteine) response, demonstrating that Ptch2 mediates the response to Shh (zeige SHH Proteine) in the absence of Ptch1 (zeige PTCH1 Proteine).
Our studies indicate that concomitant loss of Ptch1 (zeige PTCH1 Proteine) and Ptch2 activity inhibits epidermal lineage specification and differentiation.
PTCH2 is a direct transcriptional target that antagonizes hedgehog (zeige SHH Proteine) signaling in NIH/3T3 cells.
Single-strand conformation polymorphism analysis was used to map mouse Ptch2 to chromosome 4 between the microsatellite markers D4Mit20 and D4Mit334.
Functional compensation by Ptc1 (zeige PTCH1 Proteine) might account for the lack of a strong mutant phenotype in Ptc2-deficient mice. Normal Ptc2 function is required for adult skin homeostasis.
Results demonstrate a direct link between overproliferation and retinal dysplasia in the ptc2-/- juvenile retina and establish ectopic proliferation as the likely cellular underpinning of retinal dysplasia in juvenile ptc2-/- mutants.
The Hedgehog (zeige SHH Proteine) co-receptors patched1 (zeige PTCH1 Proteine) and patched2 are expressed in regions of the perichondrium that will form bone before the onset of ossification.
The generation and characterization of the ptc1 (zeige PTCH1 Proteine);ptc2 double mutant assigned novel and unexpected functions to the Hh signaling pathway.
Positional cloning of blowout (zeige PTCH1 Proteine) identified a nonsense mutation in patched1 (zeige PTCH1 Proteine), a negative regulator of the Hedgehog (zeige SHH Proteine) pathway, as the underlying cause of the blowout (zeige PTCH1 Proteine) phenotype.
Zyxin (zeige ZYX Proteine) binding to Ptc2 is due to the interaction of Zyxin (zeige ZYX Proteine) 2nd LIM (zeige PDLIM5 Proteine)-domain (530-590 aa) with the under-membrane region of the cytoplasmic C-terminus of Ptc2 (1159-1412 aa).
This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.
patched homolog 2
, protein patched homolog 2
, patched 2
, protein patched homolog 1
, patched homolog 1
, xptc 2
, patched 1